Browsing by Author "Beersum, S.E.C. van"

Now showing items 1-49 of 49

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Latour, B.L. ; Weghe, J.C. Van De; Rusterholz, T.D.S.; Letteboer, S.J.F. ; Gomez, A.; Shaheen, R.; Gesemann, M.; Karamzade, A.; Asadollahi, M.; Barroso-Gil, M.; Chitre, M.; Grout, M.E.; Reeuwijk, J. van ; Beersum, S.E.C. van ; Miller, C.V.; Dempsey, J.C.; Morsy, H.; Bamshad, M.J.; Nickerson, D.A.; Neuhauss, S.C.; Boldt, K.; Ueffing, M.; Keramatipour, M.; Sayer, J.A.; Alkuraya, F.S.; Bachmann-Gagescu, R.; Roepman, R. ; Doherty, D. et al. sine al.
2020, Article / Letter to editor (Journal of Clinical Investigation, vol. 130, iss. 8, (2020), pp. 4423-4439)
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
Corral Serrano, J.C.; Lamers, I.J.C. ; Reeuwijk, J. van ; Duijkers, L.E.M. ; Hoogendoorn, A.D.M. ; Yildirim, Adem; Argyrou, N. ; Letteboer, S.J.F. ; Beersum, S.E.C. van ; Garanto, A. ; Roepman, R. ; Collin, R.W.J. et al. sine al.
2020, Article / Letter to editor (Proceedings of the National Academy of Sciences USA, vol. 117, iss. 18, (2020), pp. 9922-9931)
CiliaCarta: An integrated and validated compendium of ciliary genes
Dam, T.J.P. van; Kennedy, J.; Lee, R. van der; Vrieze, E. de ; Wunderlich, K.A.; Rix, S.; Dougherty, G.W.; Lambacher, N.J.; Li, C.; Jensen, V.L.; Leroux, M.R.; Hjeij, R.; Horn, N.; Texier, Y.; Wissinger, Y.; Reeuwijk, J. van ; Wheway, G.; Knapp, B.; Scheel, J.F.; Franco, B.; Mans, D.A. ; WIjk, E. van ; Kepes, F.; Slaats, G.G.; Toedt, G.; Kremer, H. ; Omran, H.; Szymanska, K.; Koutroumpas, K.; Ueffing, M.; Nguyen, T.T.M. ; Letteboer, S.J.F. ; Oud, M.M. ; Beersum, S.E.C. van ; Schmidts, M. ; Beales, P.L.; Lu, Q.; Giles, R.H.; Szklarczyk, R.; Russell, R.B.; Gibson, T.J.; Johnson, C.A.; Blacque, O.E.; Wolfrum, U.; Boldt, K.; Roepman, R. ; Hernandez-Hernandez, V.; Huynen, M.A. et al. sine al.
2019, Article / Letter to editor (PLoS One, vol. 14, iss. 5, (2019), article e0216705)
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Lamers, I.J.C. ; Reijnders, M.R.F. ; Venselaar, H. ; Kraus, A.; Jansen, S; Vries, B.B.A. de ; Houge, G.; Gradek, G.A.; Seo, J.; Choi, M.; Chae, J.H.; Burgt, I. van der ; Pfundt, R.P. ; Letteboer, S.J.F. ; Beersum, S.E.C. van ; Dusseljee, S. ; Brunner, H.G. ; Doherty, D.; Kleefstra, T. ; Roepman, R. et al. sine al.
2017, Article / Letter to editor (American Journal of Human Genetics, vol. 101, iss. 5, (2017), pp. 824-832)
Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Nguyen, T.T.M. ; Hull, S.; Roepman, R. ; Born, L.I. van den; Oud, M.M. ; Vrieze, E. de ; Hetterschijt, L. ; Letteboer, S.J.F. ; Beersum, S.E.C. van ; Blokland, E.A.W. ; Yntema, H.G. ; Cremers, F.P.M. ; Zwaag, P.A. van der; Arno, G.; WIjk, E. van ; Webster, A.R.; Haer-Wigman, L. et al. sine al.
2017, Article / Letter to editor (Journal of Medical Genetics, vol. 54, iss. 9, (2017), pp. 624-632)
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Boldt, K.; Reeuwijk, J. van ; Lu, Q.; Koutroumpas, K.; Nguyen, T.T.M. ; Texier, Y.; Beersum, S.E.C. van ; Horn, N.; Willer, J.R.; Mans, D.A. ; Dougherty, G.; Lamers, I.J. ; Coene, K.L.M. ; Arts, H.H. ; Betts, M.J.; Beyer, T.; Bolat, E. ; Gloeckner, C.J.; Haidari, K.; Hetterschijt, E.C. ; Iaconis, D.; Jenkins, D.; Klose, F.; Knapp, B.; Latour, B.L. ; Letteboer, S.J.F. ; Marcelis, C.L.M. ; Mitic, D.; Morleo, M.; Oud, M.M. ; Riemersma, M. ; Rix, S.; Terhal, P.A.; Toedt, G.; Dam, T.J.P. van; Vrieze, E. de ; Wissinger, Y.; Wu, K.M.; Apic, G.; Beales, P.L.; Blacque, O.E.; Gibson, T.J.; Huynen, M.A. ; Katsanis, N.; Kremer, H. ; Omran, H.; WIjk, E. van ; Wolfrum, U.; Kepes, F.; Davis, E.E.; Franco, B.; Giles, R.H.; Ueffing, M.; Russell, R.B.; Roepman, R. et al. sine al.
2016, Article / Letter to editor (Nature Communications, vol. 7, (2016), article 11491)
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina
Eblimit, A.; Nguyen, T.M.; Chen, Y; Esteve-Rudd, J.; Zhong, H.; Letteboer, S.J.F. ; Reeuwijk, J. van ; Simons, D.L.; Ding, Q.; Wu, K.M.; Li, Y.; Beersum, S.E. van ; Moayedi, Y.; Xu, H.; Pickard, P.; Wang, K.; Gan, L.; Wu, S.M.; Williams, D.S.; Mardon, G.; Roepman, R. ; Chen, R. et al. sine al.
2015, Article / Letter to editor (Human Molecular Genetics, vol. 24, iss. 6, (2015), pp. 1584-1601)
The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function
Lokaj, M.; Kosling, S.K.; Koerner, C.; Lange, S.M.; Beersum, S.E.C. van ; Reeuwijk, J. van ; Roepman, R. ; Horn, N.; Ueffing, M.; Boldt, K.; Wittinghofer, A. et al. sine al.
2015, Article / Letter to editor (Structure with Folding & Design, vol. 23, iss. 11, (2015), pp. 2122-2132)
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Schmidts, M. ; Hou, Y.; Cortes, C.R.; Mans, D.A. ; Huber, C.; Boldt, K.; Patel, M.; Reeuwijk, J. van ; Plaza, J.M.; Beersum, S.E.C. van ; Yap, Z.M.; Letteboer, S.J.F. ; Taylor, S.P.; Herridge, W.; Johnson, C.A.; Scambler, P.J.; Ueffing, M.; Kayserili, H.; Krakow, D.; King, S.M.; Beales, P.L.; Al-Gazali, L.; Wicking, C.; Cormier-Daire, V.; Roepman, R. ; Mitchison, H.M.; Witman, G.B. et al. sine al.
2015, Article / Letter to editor (Nature Communications, vol. 6, (2015), pp. 7074)
The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking
Bachmann-Gagescu, R.; Dona, M.A. ; Hetterschijt, L. ; Tonnaer, E.L.G.M. ; Peters, T.A. ; Vrieze, E. de ; Mans, D.A. ; Beersum, S.E.C. van ; Phelps, I.G.; Arts, H.H. ; Keunen, J.E.E. ; Ueffing, M.; Roepman, R. ; Boldt, K.; Doherty, D.; Moens, C.B.; Neuhauss, S.C.; Kremer, H. ; WIjk, E. van et al. sine al.
2015, Article / Letter to editor (Plos Genetics, vol. 11, iss. 10, (2015), pp. e1005575)
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish
Dona, M.; Bachmann-Gagescu, R.; Texier, Y.; Toedt, G.; Hetterschijt, L. ; Tonnaer, E.L.; Peters, T.A. ; Beersum, S.E.C. van ; Bergboer, J.G.M.; Horn, N.; Vrieze, E. de ; Slijkerman, R.W.N. ; Reeuwijk, J. van ; Flik, G.; Keunen, J.E.E. ; Ueffing, M.; Gibson, T.J.; Roepman, R. ; Boldt, K.; Kremer, H. ; Wijk, E. van et al. sine al.
2015, Article / Letter to editor (Plos Genetics, vol. 11, iss. 10, (2015), pp. e1005574)
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
Sanders, A.A.; Vrieze, E. de ; Alazami, A.M.; Alzahrani, F.; Malarkey, E.B.; Sorusch, N.; Tebbe, L.; Kuhns, S.; Dam, T.J.P. van; Alhashem, A.; Tabarki, B.; Lu, Q.; Lambacher, N.J.; Kennedy, J.E.; Bowie, R.V.; Hetterschijt, L. ; Beersum, S.E. van ; Reeuwijk, J. van ; Boldt, K.; Kremer, H. ; Kesterson, R.A.; Monies, D.; Abouelhoda, M.; Roepman, R. ; Huynen, M.H.; Ueffing, M.; Russell, R.B.; Wolfrum, U.; Yoder, B.K.; WIjk, E. van ; Alkuraya, F.S.; Blacque, O.E. et al. sine al.
2015, Article / Letter to editor (Genome Biology, vol. 16, iss. 1, (2015), pp. 293)
Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARl 13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain
Cevik, S.; Sanders, A.A.; Wijk, E. van; Boldt, K.; Clarke, L.; Reeuwijk, J. van ; Hori, Y.; Horn, N.; Hetterschijt, L. ; Wdowicz, A.; Mullins, A.; Kida, K.; Kaplan, O.I.; Beersum, S.E.C. van ; Wu, K.; Letteboer, S.J.F. ; Mans, D.A. ; Katada, T.; Kontani, K.; Ueffing, M.; Roepman, R. ; Kremer, H. ; Blacque, O.E. et al. sine al.
2013, Article / Letter to editor (Plos Genetics, vol. 9, iss. 12, (2013), pp. e1003977)
Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis
Garanto, A. ; Beersum, S.E.C. van ; Peters, T.A. ; Roepman, R. ; Cremers, F.P.M. ; Collin, R.W.J.
2013, Article / Letter to editor (PLoS One, vol. 8, iss. 11, (2013), article e79369)
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome
Arts, H.H. ; Bongers, M.H.F. ; Mans, D.A. ; Beersum, S.E.C. van ; Oud, M.M. ; Bolat, E. ; Spruijt, L. ; Cornelissen, E.A.M. ; Schuurs-Hoeijmakers, J.H.M. ; Leeuw, N. de ; Cormier-Daire, V.; Brunner, H.G. ; Knoers, N.V.A.M. ; Roepman, R. et al. sine al.
2011, Article / Letter to editor (Journal of Medical Genetics, vol. 48, iss. 6, (2011), pp. 390-395)
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden, N.T.; Arts, H.H. ; Parisi, M.A.; Coene, K.L.M. ; Letteboer, S.J.F. ; Beersum, S.E.C. van ; Mans, D.A. ; Hikida, A.; Eckert, M.; Knutzen, D.; Alswaid, A.F.; Ozyurek, H.; Dibooglu, S.; Otto, E.A.; Liu, Y.; Davis, E.E.; Hutter, C.M.; Bammler, T.K.; Farin, F.M.; Dorschner, M.; Topcu, M.; Zackai, E.H.; Rosenthal, P.; Owens, K.N.; Katsanis, N.; Vincent, J.B.; Hildebrandt, F.; Rubel, E.W.; Raible, D.W.; Knoers, N.V.A.M. ; Chance, P.F.; Roepman, R. ; Moens, C.B.; Glass, I.A.; Doherty, D. et al. sine al.
2008, Article / Letter to editor (American Journal of Human Genetics, vol. 83, iss. 5, (2008), pp. 559-571)
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts, H.H. ; Doherty, D.; Beersum, S.E.C. van ; Parisi, M.A.; Letteboer, S.J.F. ; Gorden, N.T.; Peters, T.A. ; Marker, T.; Voesenek, K.E.J. ; Kartono, A.; Ozyurek, H.; Farin, F.M.; Kroes, H.Y.; Wolfrum, U.; Brunner, H.G. ; Cremers, F.P.M. ; Glass, I.A.; Knoers, N.V.A.M. ; Roepman, R. et al. sine al.
2007, Article / Letter to editor (Nature Genetics, vol. 39, iss. 7, (2007), pp. 882-888)
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Hollander, A.I. den ; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H. ; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; Dharmaraj, S.; Lopez, I.; Ivings, L.; Williams, G.A.; Springell, K.; Woods, C.G.; Jafri, H.; Rashid, Y.; Strom, T.M.; Zwaag, B. van der; Gosens, I.; Kersten, F.F.J. ; Wijk, E. van; Veltman, J.A. ; Zonneveld, M.N. ; Beersum, S.E.C. van ; Maumenee, I.H.; Wolfrum, U.; Cheetham, M.E.; Ueffing, M.; Cremers, F.P.M. ; Inglehearn, C.F.; Roepman, R. et al. sine al.
2007, Article / Letter to editor (Nature Genetics, vol. 39, iss. 7, (2007), pp. 889-895)
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
Roepman, R. ; Letteboer, S.J.F. ; Arts, H.H. ; Beersum, S.E.C. van ; Lu, X.; Krieger, E. ; Ferreira, P.A.; Cremers, F.P.M.
2005, Article / Letter to editor (Proceedings of the National Academy of Sciences USA, vol. 102, iss. 51, (2005), pp. 18520-18525)
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers, M.H.F. ; Duijf, P.H. ; Beersum, S.E.C. van ; Schoots, J.; Kampen, A. van ; Burckhardt, A.; Hamel, B.C.J. ; Losan, F.; Hoefsloot, L.H. ; Yntema, H.G. ; Knoers, N.V.A.M. ; Bokhoven, J.H.L.M. van et al. sine al.
2004, Article / Letter to editor (American Journal of Human Genetics, vol. 74, iss. 6, (2004), pp. 1239-1248)
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
Barrow, L.L.; Bokhoven, J.H.L.M. van ; Daack-Hirsch, S.; Andersen, T.; Beersum, S.E.C. van ; Gorlin, R.; Murray, J.C.
2002, Article / Letter to editor (Journal of Medical Genetics, vol. 39, iss. 8, (2002), pp. 559-566)
The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.
Bongers, M.H.F. ; Bokhoven, J.H.L.M. van ; Thienen, M.N. van; Kooyman, M.A.; Boetes, C. ; Knoers, N.V.A.M. ; Hamel, B.C.J. ; Beersum, S.E.C. van
2001, Article / Letter to editor (Journal of Medical Genetics, vol. 38, iss. 3, (2001), pp. 209--14)
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
Bokhoven, J.H.L.M. van ; Hamel, B.C.J. ; Bamshad, M.; Sangiorgi, E.; Gurrieri, F.; Duijf, P.H. ; Vanmolkot, K.R.; Beusekom, E. van ; Beersum, S.E.C. van ; Celli, J.; Merkx, G.F.M.; Tenconi, R.; Fryns, J.P.; Verloes, A.; Newbury-Ecob, R.; Raas-Rotschild, A.; Majewski, F.; Beemer, F.A.; Janecke, A.R.; Chitayat, D.; Crisponi, G.; Kayserili, H.; Yates, J.R.W.; Neri, G.; Brunner, H.G. et al. sine al.
2001, Article / Letter to editor (American Journal of Human Genetics, vol. 69, iss. 3, (2001), pp. 481--92)
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
Hol, F.A. ; Schepens, M.T.M.; Beersum, S.E.C. van ; Redolfi, E.; Affer, M.; Vezzoni, P.; Hamel, B.C.J. ; Karnes, P.; Mariman, E.C.M. ; Zucchi, I.
2000, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 69, (2000), pp. 174-181)
Nail-Patella syndrome: identification of mutations in the LMX1B gene in Dutch families.
Knoers, N.V.A.M. ; Bongers, M.H.F. ; Beersum, S.E.C. van ; Lommen, E.; Bokhoven, J.H.L.M. van ; Hol, F.A.
2000, Article / Letter to editor (Journal of the American Society of Nephrology, vol. 11, (2000), pp. 1762-1766)
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.
Gabreëls-Festen, A.A.W.M.; Beersum, S.E.C. van ; Eshuis, E.J.H.M.; Guern, E. Le; Gabreëls, F.J.M.; Engelen, B.G.M. van ; Mariman, E.C.M.
1999, Article / Letter to editor (Journal of Neurology, Neurosurgery, and Psychiatry, vol. 66, (1999), pp. 569-574)
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
Perveen, R.; Hart-Holden, N.; Dixon, M.J.; Wiszniewski, W.; Fryer, A.; Brunner, H.G. ; Pinckers, A.J.L.G. ; Beersum, S.E.C. van ; Black, G.C.M.
1999, Article / Letter to editor (Genomics : International Journal of Gene Mapping and Nucleotide Sequencing Emphasizing Analyses of the Human and Other Complex Genomes, vol. 57, (1999), pp. 219-226)
Limb Mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other hand/foot anomalies maps to human chromosome 3q27.
Bokhoven, J.H.L.M. van ; Jung, M.; Smits, A.P.T. ; Beersum, S.E.C. van ; Rüschendorf, F.; Steensel, M.A.M. van ; Veenstra, M.; Tuerlings, J.H.A.M. ; Mariman, E.C.M. ; Brunner, H.G. ; Wienker, T.F.; Reis, A.; Ropers, H.H.; Hamel, B.C.J. et al. sine al.
1999, Article / Letter to editor (American Journal of Human Genetics, vol. 64, (1999), pp. 538-546)
Hereditary neuropathy with liability to pressure palsies
Lenssen, P.P.A.; Gabreëls-Festen, A.A.W.M.; Valentijn, L.J.; Jongen, P.J.H. ; Beersum, S.E.C. van ; Engelen, B.G.M. van ; Wensen, P.J.M. van; Bolhuis, P.A.; Gabreëls, F.J.M.; Mariman, E.C.M.
1998, Article / Letter to editor (Brain, vol. 121, (1998), pp. 1451-1458)
Altered regulation of PDGFRa transcription in vitro by spina bifida associated mutant Pax1 proteins
Joosten, P.H.L.J.; Hol, F.A. ; Beersum, S.E.C. van ; Peters, H.; Hamel, B.C.J. ; Afink, G.B. ; Zoelen, E.J.J. van ; Mariman, E.C.M.
1998, Article / Letter to editor (Proceedings of the National Academy of Sciences USA, vol. 95, (1998), pp. 14459-14463)
Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization
Bokhoven, J.H.L.M. van ; Kissing, J.; Schepens, M.T.M.; Beersum, S.E.C. van ; Simons, A. ; Riegman, P.H.J.; McMahon, J.A.; McMahon, A.P.; Brunner, H.G.
1997, Article / Letter to editor (Cytogenetics and Cell Genetics, vol. 77, iss. 3-4, (1997), pp. 288-289)
Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization
Bokhoven, J.H.L.M. van ; Kissing, J.; Schepens, M.T.M.; Beersum, S.E.C. van ; Simons, A. ; Riegman, P.H.J.; McMahon, J.A.; McMahon, A.P.; Brunner, H.G.
1997, Article / Letter to editor (Cytogenetic and Genome Research, vol. 77, (1997), pp. 288-289)
A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1
Mariman, E.C.M.; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Smits, A.P.T. ; Ropers, H.H.
1996, Article / Letter to editor (Clinical Otolaryngology and Allied Sciences, vol. 21, iss. 2, (1996), pp. 169)
Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease
Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; Beersum, S.E.C. van ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; Engelen, B.G.M. van ; Broeckhoven, C. van; Mariman, E.C.M. et al. sine al.
1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)
Muragaki, Y.; Mariman, E.C.M.; Beersum, S.E.C. van ; Perälä, M.; Mourik, J.B.A. van; Warman, M.L.; Hamel, B.C.J. ; Olsen, B.R.
1996, Article / Letter to editor (Annals of the New York Academy of Sciences, vol. 785, (1996), pp. 303-306)
A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
Muragaki, Y.; Mariman, E.C.M.; Beersum, S.E.C. van ; Perälä, M.; Mourik, J.B.A. van; Warman, M.L.; Olsen, B.R.; Hamel, B.C.J.
1996, Article / Letter to editor (Nature Genetics, vol. 12, iss. 1, (1996), pp. 103-105)
A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)
Muragaki, Y.; Mariman, E.C.M. ; Beersum, S.E.C. van ; Perala, M.; Mourik, J.B.A. van; Warman, M.L.; Hamel, B.C.J. ; Olsen, B.R.
1996, Article / Letter to editor (Annals of the New York Academy of Sciences, vol. 785, (1996), pp. 303-306)
A mutation in the gene encoding the alfa2 chain of the fibril-associated collagen XI, COL9A2, causes multiple epiphyseal dysplasia (EDM2)
Muragaki, Y.; Mariman, E.C.M. ; Beersum, S.E.C. van ; Perala, M.; Mourik, J.B.A. van; Warman, M.L.; Olsen, B.R.; Hamel, B.C.J.
1996, Article / Letter to editor (Nature Genetics, vol. 12, (1996), pp. 103-105)
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; Beersum, S.E.C. van ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; Engelen, B.G.M. van ; Broeckhoven, C. van; Mariman, E.C.M. et al. sine al.
1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease
Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; Beersum, S.E.C. van ; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; Engelen, B.G.M. van ; Broeckhoven, C. van; Mariman, E.C.M. et al. sine al.
1996, Article / Letter to editor (Neurology, vol. 47, (1996), pp. 761-765)
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; Beersum, S.E.C. van ; Waal Malefijt, M.C. de ; Hoogen, F.H.J. van den ; Ropers, H.-H.; Mayne, R.; Cheah, K.S.E.; Olsen, B.R.; Warman, M.L.; Brunner, H.G. et al. sine al.
1995, Article / Letter to editor (Cell, vol. 80, iss. 3, (1995), pp. 431-437)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.
Mariman, E.C.M.; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Struycken, P.M.; Ropers, H.H.
1995, Article / Letter to editor (Human Genetics, vol. 95, (1995), pp. 56-62)
Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'
Mariman, E.C.M.; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Smits, A.P.T. ; Ropers, H.H.
1995, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 139, iss. 16, (1995), pp. 859)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
Mariman, E.C.M.; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Struycken, P.M.; Ropers, H.H.
1995, Article / Letter to editor (Human Genetics, vol. 95, iss. 1, (1995), pp. 56-62)
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus
Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; Beersum, S.E.C. van ; Waal Malefijt, M.C. de ; Hoogen, F.H.J. van den ; Ropers, H.H.; Mayne, R.; Cheah, K.S.E.; Olsen, B.R.; Warman, M.L.; Brunner, H.G. et al. sine al.
1995, Article / Letter to editor (Cell, vol. 80, (1995), pp. 431-437)
Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'.
Mariman, E.C.M. ; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Smits, A.P.T. ; Ropers, H.H.
1995, Article / Letter to editor (Nederlands Tijdschrift voor Geneeskunde, vol. 139, iss. 16, (1995), pp. 859)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
Mariman, E.C.M. ; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Struycken, P.M.; Ropers, H.H.
1995, Article / Letter to editor (Human Genetics, vol. 95, (1995), pp. 56-62)
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.
Mariman, E.C.M. ; Beersum, S.E.C. van ; Cremers, C.W.R.J. ; Struycken, P.M.; Ropers, H.H.
1995, Article / Letter to editor (Human Genetics, vol. 95, (1995), pp. 56-62)
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus
Vikkula, M.; Mariman, E.C.M. ; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; Beersum, S.E.C. van ; Waal Malefijt, M.C. de ; Hoogen, F.H.J. van den ; Ropers, H.H.; Mayne, R.; Cheah, K.S.E.; Olsen, B.R.; Warman, M.L.; Brunner, H.G. et al. sine al.
1995, Article / Letter to editor (Cell, vol. 80, (1995), pp. 431-437)

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